AKT3 and microcephaly: No patient with constitutive point mutation leading to LoF of AKT3 has been reported so far, so we were unable to compare the phenotype of patients with point mutations and microdeletions; but our data suggest that point mutations resulting in LoF of AKT3, especially if located in the 5′ exons common to the two known AKT3 isoforms, would result in microcephaly with or without ID.